Canonical Allele Identifier: CA1581282294

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357402T= , CM000667.2:g.128357402T=	GRCh38
NC_000005.9:g.127693094T= , CM000667.1:g.127693094T=	GRCh37
NC_000005.8:g.127720993T=	NCBI36
NG_008750.1:g.185642A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2555-7A= MANE Select	ENSP00000262464.4:n.2555-7A=
ENST00000262464.8:c.2555-7A=	ENSP00000262464.4:n.2555-7A=
ENST00000508053.5:c.2555-7A=	ENSP00000424571.1:n.2555-7A=
ENST00000508989.5:c.2456-7A=	ENSP00000425596.1:n.2456-7A=
ENST00000619499.4:c.2552-7A=	ENSP00000482132.1:n.2552-7A=
NM_001999.3:c.2555-7A=	NP_001990.2:n.2555-7A=
XM_017009228.2:c.2402-7A=	XP_016864717.1:n.2402-7A=
NM_001999.4:c.2555-7A= MANE Select	NP_001990.2:n.2555-7A=